The α-synuclein gene in multiple system atrophy. Issue 4 (16th March 2006)

• Record Type: Journal Article
• Authors: Ozawa, T; Healy, D G; Abou-Sleiman, P M; Ahmadi, K R; Quinn, N; Lees, A J; Shaw, K; Wullner, U; Berciano, J; Moller, J C; Kamm, C; Burk, K; Josephs, K A; Barone, P; Tolosa, E; Goldstein, D B; Wenning, G; Geser, F; Holton, J L; Gasser, T; Revesz, T; Wood, N W
• Other Names: group-author.
• Is Part Of: Journal of neurology, neurosurgery and psychiatry. Volume 77:Issue 4(2006)
• Page Start: 464
• Page End: 467
• Publication Date: 2006-03-16
• Subjects: EM, expectation-maximisation -- EMSA-SG, European MSA Study Group -- LD, linkage disequilibrium -- MAF, minor allele frequency -- MSA, multiple system atrophy -- OPCA, olivopontocerebellar atrophy -- PD, Parkinson's disease -- SND, striatonigral degeneration -- tSNP, tagging single nucleotide polymorphism; alpha synuclein -- association study -- MSA; Neurology -- Periodicals; Nervous system -- Surgery -- Periodicals; Psychiatry -- Periodicals; 616.8
• DOI: 10.1136/jnnp.2005.073528
• Languages: English
• ISSNs: 0022-3050

Abstract

Abstract : Background: The formation of α-synuclein aggregates may be a critical event in the pathogenesis of multiple system atrophy (MSA). However, the role of this gene in the aetiology of MSA is unknown and untested. Method: The linkage disequilibrium (LD) structure of the α-synuclein gene was established and LD patterns were used to identify a set of tagging single nucleotide polymorphisms (SNPs) that represent 95% of the haplotype diversity across the entire gene. The effect of polymorphisms on the pathological expression of MSA in pathologically confirmed cases was also evaluated. Results and conclusion: In 253 Gilman probable or definite MSA patients, 457 possible, probable, and definite MSA cases and 1472 controls, a frequency difference for the individual tagging SNPs or tag-defined haplotypes was not detected. No effect was observed of polymorphisms on the pathological expression of MSA in pathologically confirmed cases.